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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

Cell | Jan 9, 1998

X-linked lissencephaly and "double cortex" are allelic human disorders mapping to Xq22.3-Xq23 associated with arrest of migrating cerebral cortical neurons. We identified a novel 10 kb brain-specific cDNA interrupted by a balanced translocation in an XLIS patient that encodes a novel 40 kDa predicted protein named Doublecortin. Four double cortex/X-linked lissencephaly families and three sporadic double cortex patients show independent doublecortin mutations, at least one of them a de novo mutation. Doublecortin contains a consensus Abl phosphorylation site and other sites of potential phosphorylation. Although Doublecortin does not contain a kinase domain, it is homologous to the amino terminus of a predicted kinase protein, indicating a likely role in signal transduction. Doublecortin, along with the newly characterized mDab1, may define an Abl-dependent pathway regulating neuronal migration.

Pubmed ID: 9489700 RIS Download

Mesh terms: Amino Acid Sequence | Base Sequence | Brain | Cerebral Cortex | Chromosome Fragility | Chromosome Mapping | DNA, Complementary | Epilepsy | Family Health | Genes | Humans | Microtubule-Associated Proteins | Molecular Sequence Data | Mutation | Neuropeptides | Protein-Serine-Threonine Kinases | Proteins | Sequence Homology, Amino Acid | Sex Chromosome Aberrations | Signal Transduction | Syndrome | Translocation, Genetic | X Chromosome

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Associated grants

  • Agency: NINDS NIH HHS, Id: R01 NS041537
  • Agency: NINDS NIH HHS, Id: 5K12NS01701-04
  • Agency: NINDS NIH HHS, Id: KO8-NS01520
  • Agency: NIMH NIH HHS, Id: MH10691

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